ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6818T>C (p.Met2273Thr)

gnomAD frequency: 0.00001  dbSNP: rs1177153983
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304445 SCV001493725 uncertain significance Early myoclonic encephalopathy 2020-01-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 2273 of the JMJD1C protein (p.Met2273Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine.

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